The relationship between nuchal translucency thickening, abnormal blood flow spectrum of venous catheter and fetal chromosomal abnormalities

doi:10.3877/cma.j.issn.2095-3259.2019.04.012

Abstract

Abstract:

Objective

To explore the application value of fetal NT ultrasonography in fetal screening during early pregnancy.

Methods

We retrospectively analysed the outcomes of chromosome karyotype in 104 fetuses with increased nuchal translucency by invasive prenatal diagnosis in Guangzhou women and children′s medical center. To explore the relationship between abnormal NT thickness, abnormal blood flow spectrum of ducts venosus and chromosomal abnormalities.

Results

(1)Among 9980 pregnant women, there were 104 fetuses (about 1.0%) with abnormal NT thickness, the thickness of nuchal translucency was (3.7±1.2)mm. (2)Among 104 fetuses with abnormal NT thickness, 28 fetuses had abnormal chromosome karyotype, including 22 cases of chromosomal number abnormalities and 6 cases of structural abnormalities.The top three were trisomy 21, trisomy 18 and 47, XXX. (3)With the increase of NT thickness, the detection rate of chromosomal abnormalities increased accordingly.(4)The positive predictive values of NT thickening and normal blood flow spectrum of ductus venosus for chromosomal abnormalities were 20.93%. The positive predictive values of NT thickening and abnormal blood flow spectrum of ductus venosus for chromosomal abnormalities were 55.56%, the difference was statistically significant.

Conclusion

It is more effective to screen high-risk fetuses with abnormal chromosome karyotype by fetal NT ultrasonography, NT thickening and abnormal venous blood flow spectrum in early pregnancy.

Key words: Transparent layer thickness, Venous blood flow spectrum, Chromosome aberrations

Taowei Dong, Xuezhen Zhang. The relationship between nuchal translucency thickening, abnormal blood flow spectrum of venous catheter and fetal chromosomal abnormalities[J]. Chinese Journal of Obstetric Emergency(Electronic Edition), 2019, 08(04): 247-250.

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References 13

[1]	Iacovella C, Contro E, Ghi T, et al. The effect of the contents of exomphalos and nuchal translucency at 11－14 weeks on the likelihood of associated chromosomal abnormaliy [J]. Prenat Diagn, 2012, 32(11):1066-1070.
[2]	孙丽娟，王欣，吴青青，等. 超声检查胎儿颈项透明层厚度在筛查胎儿染色体异常中的价值[J]. 中华妇产科杂志，2013, 48(11): 819-823.
[3]	黄晓莉，梁喆. 颈项透明层增厚与胎儿不良结局的临床分析[J]. 现代中西医结合杂志，2012, 21(14): 1509-1510.
[4]	Ozkaya O, Sezik M, Ozbasar D, et al. Abnormal ductus venosus flow and tricuspid regurgitation at 11～14 weeks′ gestation have high positive predictive values for increased risk in first-trimester combined screening test: results of a pilot study[J]. Taiwan J Obstet Gynecol, 2010, 49(2): 145-150.
[5]	de Mooij YM, Bartelings MM, Twisk JW, et al. Altered jugular vein and ductus venosus flow velocities in fetuses with increased nuchal translucency and distended jugular lymphatic sacs[J]. Am J Obstet Gynecol, 2010, 202(6): 566.
[6]	Benacerraf BR, Frigoletto FD Jr, Laboda LA. Sonographic diagnosis of Down syndrome in the second teimester [J]. Am J Obstet Gynecol, 1985, 153(1): 49-52.
[7]	Nicolaides KH, Azar G, Byrne D, et al. Fetal nuchal translucency：ultrasound screening for chromosomal defects in first trimester of pregnancy [J]. BMJ, 1992, 304(6831): 867-869.
[8]	Nicolaides KH. Nuchal translucency and other first-trimester sonographic markers of chmmosomal abnormalities[J]. Am J Obstet Gynecol, 2004, 19l(1): 45-67.
[9]	Souka AP, Kmmpl E, Bakalis S, et a1. Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester [J]. Ultrasound Obstet Gynecol, 2001, 18(1): 9-17.
[10]	Moscoso G. Fetal nuchal translucencv: a need to understand the physiological basis[J]. Ultrasound Obstet Gynecol, 1995, 5(1):6-8.
[11]	Abele H, Wagner P, Sonek J, et al. First trimester ultrasound screening for Down syndrome based on maternal age, fetal nuchal translucency and different combination of the additional markers nasal bone, tricuspid and ductus venosus flow[J]. Prenat Diagn, 2015, 35(12): 1182-1186.
[12]	李胜利. 胎儿畸形产前超声诊断学[M]. 北京：人民军医出版社，2004: 40-45.
[13]	Mavrides E, Sairam S, Hollis B, et al. Screening for aneuploidy in the first trimester by assessment of blood flow inthe ductus venosus[J]. BJOG, 2002, 109(9): 1015-1019.

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